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Mevalonate kinase deficiency in a child with periodic fever and without hyperimmunoglobulinaemia D

✍ Scribed by M. Di Rocco; U. Caruso; H.R. Waterham; P. Picco; A. Loy; R.J.A. Wanders

Book ID: 110292041
Publisher: Springer
Year: 2001
Tongue: English
Weight: 37 KB
Volume: 24
Category: Article
ISSN: 0141-8955
DOI: 10.1023/a:1010525206818

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Mevalonate kinase deficiency has been documented in an 8-year-old child who presented with cerebellar ataxia, hypotonia and mevalonic aciduria. The activity of mevalonate kinase in extracts of cultured skin fibroblasts derived from the patient was approximately 2% of the mean value for controls. Fam